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Transcript 
OUTLINE 18
VII. Mutation
E. Examples: Human genetic abnormalities
F. Chromosomal abnormalities
1. Chromosome breakage
2. Aneuploidy and non-disjunction
H. Characterization of Human Genetitc abnormalities
1. Pedigree analysis
2. Sex chromatin analysis
3. Karyotype analysis
4. Gene sequencing and marker genes
Albinism
Sickle cell
Normal red blood cell
Sickle cell anemia: an autosomal co-dominant
Fig. 15.11: Non-disjunction leading to aneuploid gametes
Turner’s syndrome XO
Klinefelter’s syndrome XXY
XYY Male
Cri du chat
Fig 14.14 Use of pedigree analysis
= male
= female
= attached
Attached earlobe
Free earlobe
Fig 14.14 Use of pedigree analysis
ff
Ff
= male
= female
ff
ff
Ff
ff
Attached earlobe
Ff
ff
= attached
Ff
OR
FF
Free earlobe
Sex chromatin: Barr body
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